ClinVar Miner

List of variants in gene GPC3 reported as pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 Xq26.2(chrX:132834006-132986815)
NM_004484.3(GPC3):c.(1293_1293)-76_(1413_1413)del
NM_004484.3(GPC3):c.1159C>T (p.Arg387Ter) rs122453121
NM_004484.3(GPC3):c.1292+1G>T rs869025182
NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs)
NM_004484.3(GPC3):c.1666G>A (p.Gly556Arg) rs267606850
NM_004484.3(GPC3):c.194_206del (p.Cys65Serfs) rs869025181
NM_004484.3(GPC3):c.337+1G>A rs869025183
NM_004484.3(GPC3):c.595C>T (p.Arg199Ter) rs104894855
NM_004484.3(GPC3):c.886T>A (p.Trp296Arg) rs104894854

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.